COSMIC:
COSM5724265 (not active)
Revel Score:
ENST00000261643 (MANE Select)
0.728
ENST00000536205
0.728
ENST00000537334
0.728
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02223849 (AFR)
Genomes Max Group AF
0.02192743 (AFR)
Exomes Max Group AF
0.02179777 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14159934C>T , CM000679.2:g.14159934C>T | GRCh38 |
| NC_000017.10:g.14063251C>T , CM000679.1:g.14063251C>T | GRCh37 |
| NC_000017.9:g.14003976C>T | NCBI36 |
| NG_008034.1:g.95533C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.682C>T MANE Select | ENSP00000261643.3:p.Arg228Cys | |
| ENST00000664217.1:c.682C>T | ENSP00000499396.1:p.Arg228Cys | |
| ENST00000670279.1:c.682C>T | ENSP00000499450.1:p.Arg228Cys | |
| ENST00000261643.7:c.682C>T | ENSP00000261643.3:p.Arg228Cys | |
| ENST00000580561.1:c.*171C>T | ENSP00000462190.1:n.*171C>T | |
| ENST00000581931.5:c.*50C>T | ENSP00000462512.1:n.*50C>T | |
| NM_001303.3:c.682C>T | NP_001294.2:p.Arg228Cys | |
| XM_005256458.1:c.682C>T | XP_005256515.1:p.Arg228Cys | |
| XM_011523657.1:c.682C>T | XP_011521959.1:p.Arg228Cys | |
| XM_011523658.1:c.106C>T | XP_011521960.1:p.Arg36Cys | |
| XR_933974.1:n.785C>T | ||
| XR_933975.1:n.785C>T | ||
| NM_001303.4:c.682C>T MANE Select | NP_001294.2:p.Arg228Cys |